Corsi GI, Gadekar VP, Haukedal H, Doncheva NT, Anthon C, Ambardar S, Palakodeti D, Hyttel P, Freude K, Seemann SE, Gorodkin J. The transcriptomic landscape of neurons carrying PSEN1 mutations reveals changes in extracellular matrix components and non-coding gene expression. Neurobiol Dis. 2023 Mar;178:105980. Epub 2022 Dec 23 PubMed.

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Mutations

  1. PSEN1 A79V
  2. PSEN1 L150P